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Cutaneous markers of primary immunodeficiency diseases in children
A Berron-Ruiz1, R Berron-Perez, R Ruiz-Maldonado
1Department of Dermatology and Immunology, National Institute of Pediatrics, Mexico City, Mexico.
Insights
Skin changes are key indicators for diagnosing primary immunodeficiency diseases (PIDs) in children. Early identification of these cutaneous alterations aids in timely immunologic diagnosis and management of PIDs.
Area of Science:
- Pediatric Immunology
- Dermatology
- Clinical Genetics
Background:
- Primary immunodeficiency diseases (PIDs) are rare but significant conditions primarily affecting children.
- Cutaneous manifestations are frequently observed in pediatric PID patients.
- The diagnostic role of skin alterations in PIDs requires further elucidation.
Purpose of the Study:
- To investigate the prevalence of PIDs in a pediatric hospital setting.
- To determine the association between PIDs and specific cutaneous alterations.
- To assess the utility of cutaneous alterations as diagnostic markers for PIDs.
Main Methods:
- Retrospective analysis of pediatric patient data from a large hospital.
- Identification of patients diagnosed with PIDs.
- Documentation and categorization of associated cutaneous alterations.
- Evaluation of the temporal relationship between skin findings and PID diagnosis.
Main Results:
- Out of 382,383 pediatric patients, 130 (0.03%) were diagnosed with PIDs.
- An average of two cutaneous alterations were present in 69% of PID patients.
- Infections (80%) and eczema-dermatitis (38%) were the most common skin issues.
- Cutaneous alterations preceded the immunologic diagnosis in 79% of cases, guiding the diagnosis.
Conclusions:
- Cutaneous alterations are highly prevalent in children with PIDs.
- Skin manifestations frequently serve as early indicators for PID diagnosis.
- Recognizing dermatologic signs is crucial for the early detection and management of pediatric PIDs.
Abstract:
Primary immunodeficiency diseases (PIDs) are rare but important conditions found predominantly in children. We studied PIDs in a large pediatric hospital, their association with cutaneous alterations, and the importance of cutaneous alterations as diagnostic markers. Among 382,383 pediatric patients, 130 (0.0003%) had a PID: humoral in 27, cellular and combined in 18, phagocytic in 37, and associated with major defects in 45. An average of two cutaneous alterations were present in 90 (69%) patients: infections in 80, eczema-dermatitis in 38, and miscellaneous in 57. In 71 (79%) patients the cutaneous alterations preceded and were the basis for the clinical immunologic diagnosis. Only two PIDs were not associated with cutaneous lesions.